肥厚型心肌病样心肌病五例及其分析

The clinical characteristics of 5 patients with inherited hypertrophic cardiomyopathy

目的探讨以左心室心肌肥厚为重要表型的非肥厚型心肌病的其他遗传性心肌病诊断线索。方法分析临床中5例因不可解释左心室心肌肥厚初诊肥厚型心肌病而后确诊为其他遗传性心肌病患者的临床特征、生化指标、心电图和确诊方法。结果5例患者心电图均示左心室高电压，ST-T改变。1例年轻男性伴肌无力、心室预激、丙氨酸转氨酶（ALT）、肌酸激酶（CK）持续升高，肌肉病理活检示肌纤维内含自噬和糖原空泡，诊断Danon’s病。1例年轻男性，短P—R间期，肌肉活检可见破碎红纤维，诊断线粒体心肌病。3例有发作性手足痛、皮肤血管角质瘤，血白细胞α-半乳糖苷酶活性降低，诊断Fabry病。结论因左心室心肌肥厚表现为肥厚型心肌病样的遗传性心肌病患者少见，通过仔细询问病史、临床表现特点和相关特殊检查可能明确诊断。

Objective To explore the clinical characteristics of patients with inherited hypertrophic cardiomyopathy. Methods The clinical characteristics, electrocardiogram, serum chemistry and diagnostic methods were retrospectively investigated in 5 patients with inherited hypertrophic cardiomyopathy. Results The electrocardiograms of all patients were abnormal, with prominent left ventricular voltage and ST-T changes. One male patient with elinicopathological features of early onset, muscle weakness, ventricular preexeitation, elevations of two serum proteins and intracytoplasmic vacuoles containing autophagic material and glycogen in biceps brachill muscle cells was diagnosed Danon＇s disease. Mitochondrial eardiomyopathy was diagnosed in one male patient with early onset, short PR interval and biopsy findings of ragged-red fibers in biceps brachill muscle. Three patients were diagnosed as Fabry＇s disease with clinical characteristics including pain and acroparesthesias, angiokeratoma and decrease of ~x-galactosidaseA activity. Conclusion Some of the rare inherited hypertrophic cardiomyopathy might easily be clinically misdiagnosed as hypertrophic cardiomyopathy, systemic and careful case history inquiring and specific relevant examinations would help to make the fight diagnosis in these patients.